Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1426868527 | 1 | 20633841 | missense variant | G/A;T | snv | 3 | |||||
rs369634041 | 6 | 162262647 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-05 | 3 | ||||
rs1057518882 | MT | 14598 | missense variant | T/C | snv | 2 | |||||
rs139548132 | 1.000 | 1 | 119140608 | missense variant | A/C;G;T | snv | 3.2E-03; 1.6E-05; 4.0E-06 | 2 | |||
rs757199733 | 2 | 178799505 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 2 | |||
rs1057519629 | 16 | 2498332 | missense variant | C/G;T | snv | 2.1E-05 | 1 | ||||
rs1417802320 | 1 | 7962861 | missense variant | A/T | snv | 4.0E-06 | 1 | ||||
rs41311141 | 22 | 32484019 | synonymous variant | A/G;T | snv | 3.4E-02 | 1 | ||||
rs45467995 | 1 | 20649062 | missense variant | G/A | snv | 1 | |||||
rs55739947 | 15 | 101010802 | missense variant | C/A | snv | 9.3E-03 | 8.4E-03 | 1 | |||
rs748705829 | 11 | 233109 | missense variant | T/C | snv | 8.0E-06 | 1 | ||||
rs752804472 | 20 | 31484309 | missense variant | G/A;T | snv | 5.7E-06; 5.7E-06 | 1 | ||||
rs756677845 | 1 | 20638074 | frameshift variant | G/- | del | 1 | |||||
rs758414077 | 19 | 48966681 | synonymous variant | G/A | snv | 8.0E-06 | 2.8E-05 | 1 | |||
rs781652026 | 10 | 100989789 | missense variant | G/A;T | snv | 4.0E-06 | 1 | ||||
rs1224426272 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 6 | |||
rs121917763 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 5 | |
rs45539432 | 0.851 | 0.040 | 1 | 20649109 | stop gained | C/T | snv | 4.0E-05 | 3.5E-05 | 5 | |
rs762472005 | 0.851 | 0.040 | 3 | 45722873 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 5 | |
rs368134308 | 0.882 | 0.040 | 6 | 162443356 | missense variant | C/A;G;T | snv | 3.2E-05; 2.6E-04 | 4 | ||
rs71653619 | 1.000 | 0.040 | 1 | 7970934 | missense variant | G/A | snv | 7.9E-03 | 7.0E-03 | 4 | |
rs12817488 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 3 | ||
rs1290141855 | 1.000 | 0.040 | 16 | 55698539 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 3 | |
rs74315356 | 0.925 | 0.040 | 1 | 20649054 | stop gained | G/A | snv | 4.0E-06 | 1.4E-05 | 3 | |
rs74315360 | 0.925 | 0.040 | 1 | 20638104 | missense variant | C/A | snv | 3 |